http://rdf.disgenet.org/resource/nanopub/NP928171.RAJuUssJatFA2X-3Wrg_sp10FjHgfXvrlySLfjE_rwl8c130_head http://rdf.disgenet.org/resource/nanopub/NP928171.RAJuUssJatFA2X-3Wrg_sp10FjHgfXvrlySLfjE_rwl8c http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP928171.RAJuUssJatFA2X-3Wrg_sp10FjHgfXvrlySLfjE_rwl8c130_assertion http://rdf.disgenet.org/resource/nanopub/NP928171.RAJuUssJatFA2X-3Wrg_sp10FjHgfXvrlySLfjE_rwl8c http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP928171.RAJuUssJatFA2X-3Wrg_sp10FjHgfXvrlySLfjE_rwl8c130_provenance http://rdf.disgenet.org/resource/nanopub/NP928171.RAJuUssJatFA2X-3Wrg_sp10FjHgfXvrlySLfjE_rwl8c http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP928171.RAJuUssJatFA2X-3Wrg_sp10FjHgfXvrlySLfjE_rwl8c130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP928171.RAJuUssJatFA2X-3Wrg_sp10FjHgfXvrlySLfjE_rwl8c http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP928171.RAJuUssJatFA2X-3Wrg_sp10FjHgfXvrlySLfjE_rwl8c130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP928171.RAJuUssJatFA2X-3Wrg_sp10FjHgfXvrlySLfjE_rwl8c130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP928171.RAJuUssJatFA2X-3Wrg_sp10FjHgfXvrlySLfjE_rwl8c130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP928171.RAJuUssJatFA2X-3Wrg_sp10FjHgfXvrlySLfjE_rwl8c130_assertion http://identifiers.org/ncbigene/10054 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C2931919 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/resource/gda/DGN013e3b6bd2a6be080efcf11ab71af2c4 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/10054 http://rdf.disgenet.org/resource/gda/DGN013e3b6bd2a6be080efcf11ab71af2c4 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C2931919 http://rdf.disgenet.org/resource/gda/DGN013e3b6bd2a6be080efcf11ab71af2c4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP928171.RAJuUssJatFA2X-3Wrg_sp10FjHgfXvrlySLfjE_rwl8c130_provenance http://rdf.disgenet.org/resource/nanopub/NP928171.RAJuUssJatFA2X-3Wrg_sp10FjHgfXvrlySLfjE_rwl8c130_assertion http://purl.org/dc/terms/description [Specific mutations in at least four genes (whose protein products are essential in lower brain's neuronal and interneuronal functions, including mitochondrial respiratory chains have been identified in unrelated individuals with EIEE and include: (a) the ARX (aristaless-related) homeobox gene at Xp22.13 (EIEE-1 variant); (b) the CDKL5 (SYK9) gene at Xp22 (EIEE-2 variant); (c) the SLC25A22 (GC1) gene at 11p15.5 (EIEE-3 variant); and (d) the Stxbp1 (MUNC18-1) gene at 9q34-1 (EIEE-4 variant).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP928171.RAJuUssJatFA2X-3Wrg_sp10FjHgfXvrlySLfjE_rwl8c130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP928171.RAJuUssJatFA2X-3Wrg_sp10FjHgfXvrlySLfjE_rwl8c130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21967765 http://rdf.disgenet.org/resource/nanopub/NP928171.RAJuUssJatFA2X-3Wrg_sp10FjHgfXvrlySLfjE_rwl8c130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP928171.RAJuUssJatFA2X-3Wrg_sp10FjHgfXvrlySLfjE_rwl8c130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP928171.RAJuUssJatFA2X-3Wrg_sp10FjHgfXvrlySLfjE_rwl8c130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP928171.RAJuUssJatFA2X-3Wrg_sp10FjHgfXvrlySLfjE_rwl8c http://purl.org/dc/terms/created 2016-05-13T12:48:45+02:00 http://rdf.disgenet.org/resource/nanopub/NP928171.RAJuUssJatFA2X-3Wrg_sp10FjHgfXvrlySLfjE_rwl8c http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP928171.RAJuUssJatFA2X-3Wrg_sp10FjHgfXvrlySLfjE_rwl8c http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP928171.RAJuUssJatFA2X-3Wrg_sp10FjHgfXvrlySLfjE_rwl8c http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP928171.RAJuUssJatFA2X-3Wrg_sp10FjHgfXvrlySLfjE_rwl8c http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP928171.RAJuUssJatFA2X-3Wrg_sp10FjHgfXvrlySLfjE_rwl8c http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP928171.RAJuUssJatFA2X-3Wrg_sp10FjHgfXvrlySLfjE_rwl8c http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP928171.RAJuUssJatFA2X-3Wrg_sp10FjHgfXvrlySLfjE_rwl8c http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP928171.RAJuUssJatFA2X-3Wrg_sp10FjHgfXvrlySLfjE_rwl8c http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP928171.RAJuUssJatFA2X-3Wrg_sp10FjHgfXvrlySLfjE_rwl8c http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP928171.RAJuUssJatFA2X-3Wrg_sp10FjHgfXvrlySLfjE_rwl8c http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP928171.RAJuUssJatFA2X-3Wrg_sp10FjHgfXvrlySLfjE_rwl8c http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0